RET c.129_130insA ;(p.Q44Tfs*18)

Variant ID: 10-43595962-C-CA

NM_020975.4(RET):c.129_130insA;(p.Q44Tfs*18)

This variant was identified in 2 publications

View GRCh38 version.



Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP

Publications:

Molecular genetics of syndromic and non-syndromic forms of parathyroid carcinoma.

Human Mutation
Cardoso, Luís L; Stevenson, Mark M; Thakker, Rajesh V RV
Publication Date: 2017-12

Variant appearance in text: RET: 129insA
PubMed Link: 28881068
Variant Present in the following documents:
  • Main text
  • HUMU-38-1621.pdf
View BVdb publication page